Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.P564_H573delFs
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COL9A2

NM_001852.4:p.P564_H573delFs

Associated Papers

Retinal detachment in Type IX collagen recessive Stickler syndrome.

Maghsoudi D et al.

Eye (london, England), 2025

Autosomal Recessive Stickler Syndrome.

Nixon TRW et al.

Genes, 2022

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Nixon TRW et al.

American Journal of Medical Genetics. Part A, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."